Search Results
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … to develop standard processes for reviewing data about gene variants and their connections to health and disease. …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Association, and Function in Human Health and Disease.” The workshop included valuable discussions about a … Association, and Function in Human Health and Disease Workshop” is available . Recent and upcoming NHGRI … the human microbiome are known to be associated with human disease. Understanding the nature and consequences of such …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2022.
… – “Genome-Wide Polygenic Score to Predict Chronic Kidney Disease Across Ancestries” Dikilitas et al. – “Use of … 23 Clinical Genome Resource (ClinGen) ClinGen Website Gene Curation Collection (GenCC) DiStefano et al. – “The Gene … Smith et al. – “Enrichment Analyses Identify Shared Associations for 25 Quantitative Traits in Over 600,000 …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Association, and Function in Human Health and Disease" was held on January 22-24. View the recording on … by discovering the basic defects in cystinosis, Salla disease, and infantile free sialic acid storage disease. He … of Cancer Risk Researchers Discover That Kidney Disease Gene Affects More Populations Than Previously Thought All of …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
Archive
… Gene-disease association data could improve drug development … …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… ] Chandler, R. J. and Venditti, C. P. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther , 19(1):53-60. 2008. [ PubMed ] Chandler, R. J. et … Disorder, Family Health History, Ancestry, Genetic Disease, Clinical Study, Genetics Study … This study …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… phenotyping of ~100,000 coding variants across Mendelian disease genes HG011989 Gary Hon William Kraus Nikhil Munshi … Duke University High-throughput functional annotation of gene regulatory elements and variants critical to complex … resource of functional elements, TF footprints and gene regulatory interactions HG011986 Ansuman Satpathy …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… stop in pre-adolescence. Because of the nature of the disease, researchers have long thought that answers may lie … that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … blood vessels and increases a person's risk of heart disease. "This study is important because it shows that …